title: Detection of p53 gene mutations in oral squamous cell carcinomas of a black African population sample.
abstract: Mutations in the p53 gene have been reported in head and neck carcinomas. We determined the p53 mutation profile in 55 oral squamous cell carcinomas (OSCCs) from a black African population sample. DNA from all the patients were investigated using PCR amplification of the p53 gene (exons 5-9), followed by heteroduplex single-stranded conformational polymorphism (HEX-SSCP) analysis on the PCR products. Direct sequencing was performed on cases where mutations were identified. The results showed mutations in 13 of 55 (23.6%) tumours. Eleven of 13 (85%) were single base pair substitutions (9 transitions and 2 transversions), and 2 were deletions. Two novel mutations were identified: a large 63-base pair deletion, and a single base pair substitution. The mutations in our study occurred outside the head and neck tumour hot spot region (codons 238-248).
authors.affiliation: Department of Medical Virology, University of Stellenbosch, Tygerberg Hospital, South Africa.
authors.forename: E J
authors.initials: EJ
authors.lastname: van Rensburg
authors.forename: S
authors.initials: S
authors.lastname: Engelbrecht
authors.forename: W F
authors.initials: WF
authors.lastname: van Heerden
authors.forename: M J
authors.initials: MJ
authors.lastname: Kotze
authors.forename: E J
authors.initials: EJ
authors.lastname: Raubenheimer
mesh_terms: D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution / Q000235:genetics; D001483:Base Sequence; D044383:Black People / Q000235:genetics*; D002294:Carcinoma, Squamous Cell / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D016158:Genes, p53; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009062:Mouth Neoplasms / Q000453:epidemiology / Q000235:genetics*; D009154:Mutation; D013019:South Africa / Q000453:epidemiology